STAC3 (SH3 and cysteine rich domain 3)

2021-06-01  

Identity

HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
MYPBB,NAM

Other Information

Locus ID:

NCBI: 246329
MIM: 615521
HGNC: 28423
Ensembl: ENSG00000185482

Variants:

dbSNP: 246329
ClinVar: 246329
TCGA: ENSG00000185482
COSMIC: STAC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185482ENST00000332782Q96MF2
ENSG00000185482ENST00000332782A0A024RB38
ENSG00000185482ENST00000546246Q96MF2
ENSG00000185482ENST00000553489G3V5D4
ENSG00000185482ENST00000554578Q96MF2
ENSG00000185482ENST00000557176G3V2L9

Expression (GTEx)

0
500
1000
1500

References

Pubmed IDYearTitleCitations
237368552013Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.65
305438362019STAC proteins: The missing link in skeletal muscle EC coupling and new regulators of calcium channel function.6
287774912017Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.5
301686602018STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.3
315599182019Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.0
318596252019[When all roads lead to Africa…].0

Citation

Dessen P

STAC3 (SH3 and cysteine rich domain 3)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58386/stac3